TY - JOUR
T1 - Molecular analysis in a family presenting with a mild form of late-onset autosomal dominant chronic progressive external ophthalmoplegia
AU - Negro, Roberto
AU - Zoccolella, Stefano
AU - Dell'Aglio, Rosa
AU - Amati, Angela
AU - Artuso, Lucia
AU - Bisceglia, Luigi
AU - Lavolpe, Vito
AU - Papa, Sergio
AU - Serlenga, Luigi
AU - Petruzzella, Vittoria
PY - 2009/6
Y1 - 2009/6
N2 - Nuclear genes affecting mitochondrial genome stability were screened in an Italian family presenting with autosomal dominant progressive external ophthalmoplegia (adPEO) associated with multiple mitochondrial DNA (mtDNA) deletions. We report on a heterozygous c.907C>T (p.R303W) mutation found in the N-terminal domain of the human mitochondrial DNA helicase, Twinkle protein, in six members of a family, in which two individuals manifested late-onset PEO and morphological and molecular signs of mitochondrial dysfunction along with two carriers who are presently free of disease manifestation. We also investigated if the p.R303W mutation in PEO1 gene affected the relative copy number of mitochondrial DNA genomes.
AB - Nuclear genes affecting mitochondrial genome stability were screened in an Italian family presenting with autosomal dominant progressive external ophthalmoplegia (adPEO) associated with multiple mitochondrial DNA (mtDNA) deletions. We report on a heterozygous c.907C>T (p.R303W) mutation found in the N-terminal domain of the human mitochondrial DNA helicase, Twinkle protein, in six members of a family, in which two individuals manifested late-onset PEO and morphological and molecular signs of mitochondrial dysfunction along with two carriers who are presently free of disease manifestation. We also investigated if the p.R303W mutation in PEO1 gene affected the relative copy number of mitochondrial DNA genomes.
KW - mtDNA copy number
KW - mtDNA multiple deletions
KW - Progressive external ophthalmoplegia
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U2 - 10.1016/j.nmd.2009.04.008
DO - 10.1016/j.nmd.2009.04.008
M3 - Article
C2 - 19428252
AN - SCOPUS:67349155550
VL - 19
SP - 423
EP - 426
JO - Neuromuscular Disorders
JF - Neuromuscular Disorders
SN - 0960-8966
IS - 6
ER -